@article{6c1f290efecb40ceb6cdfb6ecbe1ddc8,
title = "Diagnosis of 22q11.2 Deletion Syndrome and Artemis Deficiency in Two Children with T-B-NK+ Immunodeficiency",
keywords = "22Q11 deletion, DiGeorge anomaly, Immunodeficiency, SCID",
author = "Jennifer Heimall and Michael Keller and Rushani Saltzman and Nancy Bunin and Donna McDonald-McGinn and Elaine Zakai and {De Villartay}, {Jean Pierre} and Despina Moshous and Barbara Ariue and McCarthy, {Elizabeth A.} and Devlin, {Blythe H.} and Suhag Parikh and Buckley, {Rebecca H.} and Markert, {M. Louise}",
note = "Two infants are described who presented with 22q11.2 deletion and a T-B-NK+ immune phenotype. For both infants, the initial diagnosis was athymia secondary to complete DiGeorge anomaly. The first infant underwent thymus transplantation but 6 months after transplantation had circulating thymus donor T cells; the patient did not develop recipient na{\"i}ve T cells.",
year = "2012",
month = oct,
doi = "10.1007/s10875-012-9741-9",
language = "American English",
volume = "32",
pages = "1141--1144",
journal = "Journal of Clinical Immunology",
issn = "0271-9142",
number = "5",
}